Chromosome 1 is the designation for the largest
human chromosome. Humans have two copies of chromosome 1, as they do with all of the
autosomes, which are the non-
sex chromosome
Sex chromosomes (also referred to as allosomes, heterotypical chromosome, gonosomes, heterochromosomes, or idiochromosomes) are chromosomes that
carry the genes that determine the sex of an individual. The human sex chromosomes are a typical pair ...
s. Chromosome 1 spans about 249 million
nucleotide
Nucleotides are Organic compound, organic molecules composed of a nitrogenous base, a pentose sugar and a phosphate. They serve as monomeric units of the nucleic acid polymers – deoxyribonucleic acid (DNA) and ribonucleic acid (RNA), both o ...
base pair
A base pair (bp) is a fundamental unit of double-stranded nucleic acids consisting of two nucleobases bound to each other by hydrogen bonds. They form the building blocks of the DNA double helix and contribute to the folded structure of both DNA ...
s, which are the basic units of information for
DNA.
[http://vega.sanger.ac.uk/Homo_sapiens/mapview?chr=1 Chromosome size and number of genes derived from this database, retrieved 2012-03-11.] It represents about 8% of the total DNA in human cells.
It was the last completed chromosome, sequenced two decades after the beginning of the
Human Genome Project.
Genes
Number of genes
The following are some of the gene count estimates of human chromosome 1. Because researchers use different approaches to
genome annotation their predictions of the
number of genes on each chromosome varies (for technical details, see
gene prediction). Among various projects, the collaborative consensus coding sequence project (
CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.
Gene list
The following is a partial list of genes on human chromosome 1. For complete list, see the link in the infobox on the right.
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C1orf112: encoding protein Chromosome 1 open reading frame 112
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C1orf127: encoding protein Chromosome 1 open reading frame 127
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C1orf27: encoding protein Chromosome 1 open reading frame 27
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C1orf38: encoding protein Chromosome 1 open reading frame 38
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CCDC181: encoding protein Coiled-coil domain-containing protein 181
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DENND1B: hypothesized to be related to asthma
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FHAD1: encoding protein Forkhead-associated domain containing protein 1
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LOC100132287: uncharacterized protein
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LRRIQ3: encoding protein Leucine-rich repeats and IQ motif containing 3
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Shisa family member 4: encoding protein Shisa family member 4
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TINAGL1: encoding protein Tubulointerstitial nephritis antigen-like
p-arm
Partial list of the genes located on p-arm (short arm) of human chromosome 1:
q-arm
Partial list of the genes located on
q-arm (long arm) of human chromosome 1:
Diseases and disorders
There are 890 known diseases related to this chromosome. Some of these diseases are
hearing loss,
Alzheimer's disease
Alzheimer's disease (AD) is a neurodegenerative disease and the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in remembering recent events. As the disease advances, symptoms can include problems wit ...
,
glaucoma and
breast cancer
Breast cancer is a cancer that develops from breast tissue. Signs of breast cancer may include a Breast lump, lump in the breast, a change in breast shape, dimpling of the skin, Milk-rejection sign, milk rejection, fluid coming from the nipp ...
. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident.
Complete
monosomy (only having one copy of the entire chromosome) is invariably lethal before birth.
Complete
trisomy (having three copies of the entire chromosome) is lethal within days after
conception.
Some partial deletions and partial duplications produce
birth defects.
The following diseases are some of those related to genes on chromosome 1 (which contains the most known
genetic diseases of any human chromosome):
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1q21.1 deletion syndrome
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1q21.1 duplication syndrome
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Alzheimer's disease
Alzheimer's disease (AD) is a neurodegenerative disease and the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in remembering recent events. As the disease advances, symptoms can include problems wit ...
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Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
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Bipolar disorder
Bipolar disorder (BD), previously known as manic depression, is a mental disorder characterized by periods of Depression (mood), depression and periods of abnormally elevated Mood (psychology), mood that each last from days to weeks, and in ...
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Breast cancer
Breast cancer is a cancer that develops from breast tissue. Signs of breast cancer may include a Breast lump, lump in the breast, a change in breast shape, dimpling of the skin, Milk-rejection sign, milk rejection, fluid coming from the nipp ...
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Brooke Greenberg Disease (Syndrome X)
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Carnitine palmitoyltransferase II deficiency
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Charcot–Marie–Tooth disease, types 1 and 2
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collagenopathy, types II and XI
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congenital hypothyroidism
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Ehlers-Danlos syndrome
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Factor V Leiden thrombophilia
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Familial adenomatous polyposis
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galactosemia
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Gaucher disease
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Gaucher-like disease
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Gelatinous drop-like corneal dystrophy
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Glaucoma
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GLUT1 deficiency syndrome
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Hearing loss, autosomal recessive deafness 36
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Hemochromatosis
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Hepatoerythropoietic porphyria
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Homocystinuria
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Hutchinson Gilford progeria syndrome
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3-hydroxy-3-methylglutaryl-CoA lyase deficiency
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Hypertrophic cardiomyopathy, autosomal dominant mutations of TNNT2; hypertrophy usually mild; restrictive phenotype may be present; may carry high risk of sudden cardiac death
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maple syrup urine disease
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medium-chain acyl-coenzyme A dehydrogenase deficiency
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Microcephaly
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Mitochondrial enoyl-CoA reductase protein-associated neurodegeneration (MEPAN syndrome)
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Muckle–Wells syndrome
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Nonsyndromic deafness
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Oligodendroglioma
Oligodendrogliomas are a type of glioma that are believed to originate from the oligodendrocytes of the brain or from a oligodendrocyte progenitor cell, glial precursor cell. They occur primarily in adults (9.4% of all primary brain and central ne ...
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Parkinson disease
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Pheochromocytoma
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porphyria
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porphyria cutanea tarda
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popliteal pterygium syndrome
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prostate cancer
Prostate cancer is the neoplasm, uncontrolled growth of cells in the prostate, a gland in the male reproductive system below the bladder. Abnormal growth of the prostate tissue is usually detected through Screening (medicine), screening tests, ...
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Skraban–Deardorff syndrome
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Stickler syndrome
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TAR syndrome
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trimethylaminuria
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Usher syndrome
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Usher syndrome type II
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Van der Woude syndrome
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Variegate porphyria
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GLYT1 Encephalopathy
Cytogenetic band
References
Further reading
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External links
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{{DEFAULTSORT:Chromosome 01 (Human)
Chromosome 01
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